Monogenic auto-inflammatory diseases in children and adults: what a rheumatologist should know

Салугина, С. О.; Федоров, Е. С.; Agafonova, E.

doi:10.14412/1995-4484-2019-125-132

Cited by 7 publications

(6 citation statements)

References 37 publications

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“…В настоящее время эти случаи относятся к группе АВЗ типа криопиринассоциированных периодических синдромов: семейная холодовая крапивница криопиринассоциированная -FCU (Familial Cold Urticaria) [13].…”

Section: ðåçóëüòàòû è îáñóAeäåíèåunclassified

“…Пациенты получают антибиотики в высоких дозировках, как правило, без эффекта. Выделение группы АВЗ позволяет несколько по-другому трактовать указанную симптоматику, используя новые серологические и генетические маркеры, и определять подходы к лекарственной терапии [1,13,18].…”

Section: ðåçóëüòàòû è îáñóAeäåíèåunclassified

“…Салугина и соавт. считают, что АВЗ являются «диагнозом исключения» [2,13]. Следует исключить инфекционные заболевания, неопластические процессы, воспалительные ревматические заболевания, воспалительные заболевания кишечника, иммунодефициты.…”

Section: ðåçóëüòàòû è îáñóAeäåíèåunclassified

“…Для этих состояний характерно наличие острофазового воспалительного ответа: повышение СОЭ, уровня СРБ, сывороточного амилоида A-SSA и отсутствие аутоантител и специфических аутореактивных клеток. Важным практическим выводом из проведенного исследования остается тот факт, что повышение уровня острофазовых маркеров в крови в течение заболевания является облигатным признаком для постановки диагноза АВЗ [13]. Полученные нами данные полностью подтверждают указанный вывод.…”

Section: ðåçóëüòàòû è îáñóAeäåíèåunclassified

“…Среди АВЗ выделяются болезни, имеющие наследственную моногенную природу и мультифакториальные заболевания с полигенным характером наследования предрасположенности [13].…”

Section: ðåçóëüòàòû è îáñóAeäåíèåunclassified

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Autoimmunity and autoinflammation in pathogenesis of immunoinflammatory diseases

Шилкина¹,

Масина²,

Dryazhenkova

et al. 2020

Terapevticheskii arkhiv

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Rheumatic diseases relate to the group of the immunoinflammatory diseases (IID), in pathogenesis of which have a value both autoimmune and autoinflammatory processes. Aim.To present the heterogeneous pathogenesis of inflammation in IID. Materials and methods.It is inspected 260 patients (pts) with IID: 242 pts with systemic autoimmune diseases (SAD): 65 systemic lupus erythematosis, 50 systemic sclerosis, 127 systemic vasculitides (SV) and 18 patients with autoinflammatory diseases (AID): 8 Behcets disease, 2 periodic disease, 5 familial cold fever, 2 idiopathic lobular panniculitis and 1 relapsing polychondritis. Is carried out a study of complement, antigen of von Willebrand factor (FW:AG), antinuclear antibodies, antibodies to DNA, anti-endothelial antibodies, antibodies to topoizomeraze I (anti-Scl-70), antineutrophilic cytoplasmic antibodies (ANCA), anticardiolipin antibodies (aCL IgG and aCL IgM), cryoglobulins, VS, CRP. Results.SAD were characterized by the synthesis of wide antibodies spectrum. As the basic serological marker at the screening it follows to consider antinuclear antibodies (75%). Practically in all groups it took place hypcomlemetemia with reduction of C3 and C4 complement. With systemic lupus erythematosis are revealed antibodies to DNA (71%), with ANCA-associated SV-ANCA (94%), aKL (14%); with SSD aScl-70 (17%). At Wegener granulomatosis ANCA are determined in 94% patients in the active stage. It is noted correlation ANCA with the index of the clinical activity of vasculitis. In the remaining SV groups ANCA were separated in the single cases. Cryoglobulins are noted in all patients with cryoglobulinemic vasculitis. aCL IgG and aCL IgM were the markers of antiphospholipid syndrome. Аnti-endothelial antibodies had significant oscillation spectrum. High indices FW:AG are noted with all above nosologic forms indicated, especially with Wegener granulomatosis and vasculitis hemorrhagic. Among the laboratory tests of inflammatory activity should be considered the determination of VS, CRP and FV:AG, which is also considered the marker of vascular wall defeat. Is given clinical characteristic and changes in the laboratory indices at AID: Conclusion.Isolation from the group IID of patients with AID serves as indication for a genetic study of this contingent with the approval of use for their treatment of biological therapy. Isolation from the group SAD patients with AID serves as indication for a genetic study of this contingent with the approval of use for their treatment of biological therapy.

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Autoimmunity and autoinflammation in pathogenesis of immunoinflammatory diseases

Шилкина¹,

Масина²,

Dryazhenkova

et al. 2020

Terapevticheskii arkhiv

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Long-term fever in a child: what is the reason, how to examine, treat or not treat?

Захарова

Османов²,

Творогова

et al. 2020

Medicinskij sovet

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Long unclear fever in children of different ages remains one of the difficult and topical issues in the paediatric practice. Despite up-to-date techniques of laboratory and instrumental examination, verification of prolonged fever causes remains difficult; it cannot be deciphered in 10% of cases. It is especially important to differentiate fever from hyperthermia in paediatric practice. The article provides an overview of the status update on the issue. The mechanisms of fever and hyperthermia are described, criteria for fever of unknown origin are given. It is stated that infectious diseases under the guise of fever of unknown origin develop in 60–70% of children. Systemic connective tissue disease and vasculitis are detected in 20% of cases, hemato-oncological – in 5%, auto-inflammatory – in 5%, the cause of fever remains unknown in 10% of cases. The article provides clinical observations of children with diseases debuting as fever of unknown origin with the following diagnoses: juvenile rheumatoid arthritis (JRA), a systemic variant with high activity (DAS index 28 = 5.1 at the rate of < 2.6); mucocutaneous lymphonodular syndrome (Kawasaki syndrome), damages of cardiovascular system (small coronary artery aneurysms), bacterial-viral infection; auto-inflammatory syndrome – mevalonate kinase deficiency syndrome (hyper-IgD syndrome). Diagnostic approaches to the verification of febrile condition are outlined. It is noted that treatment should not be started in a stable condition of the patient without establishing the cause of the fever, and it is advisable to use only an antipyretic agent with central and peripheral effects, pronounced antipyretic effect, analgesic and anti-inflammatory effects.

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Hereditary periodic fevers in children

Krutikhina,

Kudryashova

2024

Medicinskij sovet

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Fevers in children is a pressing challenge in paediatrics, as they are one of the most common symptoms people seek medical help. Autoinflammatory diseases (AIDs) constitute a group of diseases, where fever is one of the main symptoms, and fever attacks have a certain frequency and duration. Autoinflammatory diseases are rooted in the systemic aseptic inflammation associated with activation of the innate immune system, without elevated levels of autoantibodies. The most common autoinflammatory diseases include hereditary periodic fevers, among which are familial Mediterranean fever (FMF), HIDS/MKD, CAPS-, TRAPS-syndromes and rarer diseases (deficiency of natural interleukin receptor antagonists). The pathogenesis of this group of diseases is based on the process of accelerated formation of a supramolecular protein complex (inflammasome), which subsequently leads to the transition of the inactive form of IL1β into its active form. The clinical presentations of these diseases may be similar and include episodes of fever, abdominal pain, arthralgia, various rashes, etc., as well as an increase in acute phase parameters. These diseases are characterized by symptoms at certain intervals; they usually have intervals without showing any symptoms. Familial Mediterranean fever is characterized by a certain ethnic background (Armenians, Turks, Arabs, Jews). Today, molecular genetic testing is the most accurate method for diagnosing familial Mediterranean fever. Current therapy aims to prevent attacks of the disease, but it is also important to use symptomatic therapy to relieve the child’s condition when an attack has already developed. Modern treatment strategies include both drugs that have long been used in paediatric practice (colchicine, non-steroidal anti-inflammatory drugs (ibuprofen), glucocorticosteroids) and novel genetically engineered biological drugs (interleukin antagonists and tumour necrosis factor inhibitors, etc.).

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Monogenic auto-inflammatory diseases in children and adults: what a rheumatologist should know

Cited by 7 publications

References 37 publications

Autoimmunity and autoinflammation in pathogenesis of immunoinflammatory diseases

Autoimmunity and autoinflammation in pathogenesis of immunoinflammatory diseases

Long-term fever in a child: what is the reason, how to examine, treat or not treat?

Hereditary periodic fevers in children

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